A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5986794



Internal ID8964197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44713888..44719054hg38UCSC Ensembl
chr17:42791256..42796422hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385167
hg195167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663784
Supporting Variants
SamplesNA20508
Known GenesDBF4B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5986794
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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